ClinVar Miner

Submissions for variant NC_000021.7:g.13636378_28138533dup

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Alzheimer's disease and other cognitive disorders unit, Hospital Clínic de Barcelona_IDIBAPS RCV000148341 SCV000119897 pathogenic Alzheimer disease; Cerebral amyloid angiopathy, APP-related no assertion criteria provided research APP point mutations are a cause of early-onset Alzheimer''s disease (AD). The APP gene duplication alone or with flanking genes is the cause of early-onset AD with cerebral amyloid angiopathy.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.